Linked Data
ClinVar Variation Id:
12993
ClinVar RCV Id:
RCV000013865
RCV000013866
RCV000119574
RCV001787796
RCV001787797
RCV001787798
RCV001787800
RCV001787802
RCV001787799
RCV001787801
dbSNP Id:
rs118192162
ERepo:
CA024286/MONDO:0007783/012
PubMed:
PMID:7829078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38455359A>C , CM000681.2:g.38455359A>C | GRCh38 |
| NC_000019.9:g.38945999A>C , CM000681.1:g.38945999A>C | GRCh37 |
| NC_000019.8:g.43637839A>C | NCBI36 |
| NG_008866.1:g.26660A>C , LRG_766:g.26660A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.1565A>C | ENSP00000471601.2:p.Tyr522Ser | |
| ENST00000359596.8:c.1565A>C MANE Select | ENSP00000352608.2:p.Tyr522Ser | |
| ENST00000355481.8:c.1565A>C | ENSP00000347667.3:p.Tyr522Ser | |
| ENST00000359596.7:c.1565A>C | ENSP00000352608.2:p.Tyr522Ser | |
| ENST00000360985.7:c.1565A>C | ENSP00000354254.4:p.Tyr522Ser | |
| NM_000540.2:c.1565A>C , LRG_766t1:c.1565A>C | NP_000531.2:p.Tyr522Ser | |
| NM_001042723.1:c.1565A>C | NP_001036188.1:p.Tyr522Ser | |
| XM_006723317.1:c.1565A>C | XP_006723380.1:p.Tyr522Ser | |
| XM_006723319.1:c.1565A>C | XP_006723382.1:p.Tyr522Ser | |
| XM_011527204.1:c.1562A>C | XP_011525506.1:p.Tyr521Ser | |
| XM_011527205.1:c.1565A>C | XP_011525507.1:p.Tyr522Ser | |
| XM_006723317.2:c.1565A>C | XP_006723380.1:p.Tyr522Ser | |
| XM_006723319.2:c.1565A>C | XP_006723382.1:p.Tyr522Ser | |
| XM_011527205.2:c.1565A>C | XP_011525507.1:p.Tyr522Ser | |
| XR_001753735.1:n.1648A>C | ||
| NM_000540.3:c.1565A>C MANE Select | NP_000531.2:p.Tyr522Ser | |
| NM_001042723.2:c.1565A>C | NP_001036188.1:p.Tyr522Ser |